RESUMO
This study aimed to evaluate genotype-phenotype correlations of Parkinson's disease (PD) patients with phospholipase A2 group V (PLA2G6) variants. We analyzed the DNA of 798 patients with PD, including 78 PD patients reported previously, and 336 in-house controls. We screened the exons and exon-intron boundaries of PLA2G6 using the Ion Torrent system and Sanger method. We identified 21 patients with 18 rare variants, such that 1, 9, and 11 patients were homozygous, heterozygous, and compound heterozygous, respectively, with respect to PLA2G6 variants. The allele frequency was approximately equal between patients with familial PD and those with sporadic PD. The PLA2G6 variants detected frequently were identified in the early-onset sporadic PD group. Patients who were homozygous for a variant showed more severe symptoms than those who were heterozygous for the variant. The most common variant was p.R635Q in our cohort, which was considered a risk variant for PD. Thus, the variants of PLA2G6 may play a role in familial PD and early-onset sporadic PD.
Assuntos
Frequência do Gene/genética , Estudos de Associação Genética , Predisposição Genética para Doença/genética , Variação Genética , Fosfolipases A2 do Grupo VI/genética , Doença de Parkinson/genética , Adulto , Idade de Início , Idoso , Estudos de Coortes , Feminino , Heterozigoto , Homozigoto , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/epidemiologiaRESUMO
There are occasional reports from Europe and North America of disulfiram-linked psychosis. But there are rare reports from Japan, because disulfiram and cyanamide are used as antidipsotropic agent in clinical practice and the former is not administered so frequently as the latter in Japan. The authors described delirium in a patient who was a 50-year-old male alcoholic. He gradually showed memory impairment, disorientation, impaired judgment and delusion. One month prior to his delirium, disulfiram 200 mg/day was administered. The clinical symptoms of delirium and slowing of the EEG in the diffuse region resolved 20 days after discontinuation of disulfiram.
